Sam. Conqueror. Overcomer.

On the 15th May 2009, Samuel Christian made his way into this world...two month's premature and in severe respiratory distress. Within hours, Sam was diagnosed with Rubinstein-Taybi Syndrome - a very rare congenital disorder, of which little was known. The diagnosis together with the immediate challenges Sam faced to thrive became our core focus and it was with joy and thankfulness that we eventually brought Sam home, after nine weeks in the NICU.

As time pressed on, it became obvious that Sam's development was falling behind that of his RTS peers. Shortly before his 5th birthday Sam underwent a brain scan and it was confirmed by a paediatric neurologist that in addition to Rubinstein-Taybi Syndrome, Sam also has Cerebral Palsy related to his premature birth, as well as Autism.

This blog chronicles our journey through these challenges...
Our world has crashed, been blown apart.
This can't be happening....why us? Why now?
Your fragile life shaken before it could barely start,
How do we get through this...please, Lord, tell us how?

Drowning in our sorrow, waiting for answers that just don't come.
Our baby "special needs"? It simply can't be true!
The heartache overwhelms us, we're left feeling cold and numb.
The diagnosis tells us little - these children are so few.

But then we finallyget to touch you, to see your precious face
And all the heartache and questions fade, replaced with love and pride.
It's obvious from the very start you're showered in God's grace,
And with His love and guidance, we'll take this challenge in stride.

When once we couldn't pronounce it, Rubinstein-Taybi's become our norm.
When once the future seemed dark, we now welcome the journey as having an RTS angel brings lessons in unexpected form.

Our world has crashed, been blown apart!
This IS us.....right now!
We've been blessed with a gift, so precious from the very start. How do we get through this? Here's how.....
By believing in a God, so merciful and great,
By trusting that He's right beside us as we journey through the narrow gate.
By believing His love for us is not determined by a human frame,
By trusting that we draw Him near by merely calling His name. This precious baby we asked God for,
Prayed he'd be perfect and complete.
And, as Samuel means "God hears", He's laid His answer at our feet.

(Nicky de Beer : 27/05/2010)

Thursday, May 28, 2015

Mommy Malfunction

Can you believe our little dude turned SIX on the 15th of May? WOW! I have to say that I expected another bout of melancholy to do the rounds, as it did this time last year when we found out days before Sam's 5th birthday about the Cerebral Palsy, but thankfully not so much. Yay! We did, of course, keep it low-key and instead of splurging on a birthday party (which Sam would most likely not enjoy) and a handful of pressies, we all rather clubbed together to buy Sam a Woody doll. And he absolutely loved it! Especially the moving arms...the kid ain't that fussy at long as the arms move, the doll can be headless, legless, whatever! He's flexible like that ;-) 

The day after Sam's birthday we did our first ever parkrun with the 'FLINK STAPPERS'  (watch this space)! Sam tolerated the 5km's way better than I expected (which in essence means there was no vomit) so when a suggestion for a cup of coffee was thrown out there, we were like "Coooooool!" as if it's something we do all the time. But by the time we were en route to the coffee shop thoughts of "This cannot end well" had beaten the earlier "cooooool" to a pitiful pulp. The thought of having to catch puke in a public eatery can do that to the best of us. But what do you know - the little dude was as good as gold! Think he shouted out once or twice for whatever reason but, considering he was the only kid there (this should have been my "A-ha" moment) , it was hardly unbearable. 
The Flink Stappers!
The very next day, still riding on the previous morning's successful outing, we decided to have a bite to eat with my sis at a local FAMILY restaurant. Oh. My. Hat! Not the wisest decision I've ever made. We were immediately off to a shakey start from the get-go with Sam trying to knock placemats, etc off the table. Thinking a quick walk through the play area would provide adequate distraction, off Sam and I went. Minutes later 153cm's of frantic mother was seen fleeing the restaurant with a screeching, flapping dude in tow ("in tow" meaning awkwardly dangling from my hip area).
Aaaaand the week was downhill from there. With Risperdal being the evil anti-psychotic drug that it is (?)and, in my mind, the root of almost all of Sam's behaviour problems, I was desperate for our weaning-off process to reach its end. With Sam being on such a low dosage that there is not even a measurement for it on the Risperdal syringe and having been on his natural alternatives for almost a week, I decided not to fill the next repeat and so, that Wednesday evening, we went cold turkey...this time by choice. Choice? A funny thing that...and not 'ha ha' funny but funny like 'why do I always make the wrong one', if that can be seen as funny. 
Take the Tasmanian Devil, squish him into an Angry Bird t-shirt, together with Eeyore and that's pretty much the essence of the tormented little character we were dealing with.

If I had a Rand for every time I've said that in the last six years, I'd be hobknobbing with the Ruppert's. After six night's of Sam managing a maximum amount of sleep of around two hours (the rest of the night spent bashing himself violently from side-to-side) through uncontrollable tears and stifled sobs, I typed an e-mail to Prof Prof (a nearby paediatrician Sam saw very briefly last year when my injured ankle prevented me from driving) at 1:10am on the Tuesday morning, asking if I would be causing any harm by putting Sam back on the Risperdal! I only half expected a reply seeing as Prof Prof had not benefited from having Sam as a longterm patient (we had only seen him twice and the second visit, after hours of all things, he had not charged us for as I had mistakenly imagined seeing something in Sam's ear. #sigh ) but low-and-behold, at 1:34am my tablet lit up. A reply! With an instruction to give him a call in the morning. More sobbing...but this time full of thankfulness.

After a quick phone call the next morning to explain the situation and my reasoning for wanting to stop giving Sam the Risperdal (which had been my wanting to limit the amount of chemicals we are pumping into Sam's system on a daily basis, relying on natural remedies instead, especially as I had not seen a significant improvement in Sam's quality of life since starting Risperdal) Prof Prof a) refrained from berating me for opting for the natural remedies and instead reassured me that for peace of mind, it was good that I had at least given it a go and b) suggested that we immediately put Sam back on the Risperdal on the same dose he was previously on, but administered differently, ie. instead of a once daily dose, splitting the dose in two which should almost immediately settle my first complaint, that the Risperdal was not helping Sam during the day.  After a quick chat over the phone with our local pharmacist, I was advised that I could go collect Sam's Risperdal that very evening.

This week has been a complete contrast to last week. On Monday we headed off to our most dreaded chore, shopping.  There was probably a total of seven items on the list which would usually be carried out in a frantic 10-mintue whirlwind. This time Sam was so calm that Meg and I actually dragged our feet a little and I half-wished there was other things I needed to buy in order to take advantage of Sam's not-often-seen content being pushed around the shop.  Yesterday afternoon we had an appointment with Prof Prof, who was running a little late due to an emergency. After a half-hour wait Sam would normally have been climbing the walls...or painting them with something other than paint.  Although he did protest loudly whenever a baby cried, he was so unbelievably good and not once did he strike out when anyone came too close to him - this alone is a HUGE change! 

After sharing an impromptu slideshow presentation with me, as well as the benefits of using certain medication to help improve the quality of life for a child with Autism and reassuring me that I am not "frying" Sam's brain with the rather lengthy list of medications he takes daily, Prof Prof made probably one the most profound statements to me that anyone has done in a long while...

Many, if not most, of Sam's RTS peers have Autistic traits which often present in sensory challenges. However, I believe, their "main" diagnosis remains Rubinstein-Taybi Syndrome. Should you remove that funky little CREBP Gene from their genetic make-up, the chances are their Autistic traits and the sensory challenges related to it would quite likely disappear too. I shared a sentiment here quite some time ago though that, should we be in the glorious position to somehow completely remove both RTS and Cerebral Palsy from Sam's system...he would still be dealing with the exact same challenges he faces now on a daily basis....perhaps just without those funky little thumbs and the several scars he bravely wears reminding us of some of the more severe medical conditions related to RTS. 

In summing up our consultation yesterday afternoon, Prof Prof started with "So, we're dealing with Autism and Cerebral Palsy with underlying Rubinstein-Taybi"!  Oh my gosh! I almost started bawling right then and there. Someone gets it...someone sees passed the RTS and acknowledges and understands the significantly larger role Autism is playing in our lives. We left the hospital feeling more focused and 'together' than we have in a very, very long time. And I say "we" because somehow Sam seemed more peaceful too, firstly by eagerly signing "doctor" when I pulled the car into the garage and secondly by having such an incredibly good night's sleep last night that I had to keep putting my hand on him to make sure he was breathing!!!

And, to add yet some more positivity and hopefulness to this week, we got to have another SNAP Lite session with Aunty Annelies.  I still can't get over how mesmerised Sam is by her. When she's sitting on the floor working with him, Sam is almost unrecognisable.  She keeps him so focused and capable...the results she draws from him are amazing and not to mention what a wealth of information she is with all sort of wonderful "tricks", like using playdough to help train the brain to see and recognise outlines. 

A little more than a week ago, I sat with a guilt-ridden, near-hopeless heart...not knowing which way to turn and dealing with the anguish of possibly making my son's journey so much more difficult and impossible by constantly making wrong decisions. 
This week, as I write this, my heart wants to explode with hope and the reassurance of a way forward.
And now, please excuse me while I go find myself a crossbow, rifle...heck even a paintball gun will I can go hunt that schmuck, Murphy, down before he sees that as an invitation xxx 

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